Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease.

doi:10.1093/brain/awac464

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Article

Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease.

Brain : a journal of neurology - 3 Jul 2023

Trinh Joanne, Hicks Andrew A, König Inke R, Delcambre Sylvie, Lüth Theresa, Schaake Susen, Wasner Kobi, Ghelfi Jenny, Borsche Max, Vilariño-Güell Carles, Hentati Faycel, Germer Elisabeth L, Bauer Peter, Takanashi Masashi, Kostić Vladimir, Lang Anthony E, Brüggemann Norbert, Pramstaller Peter P, Pichler Irene, Rajput Alex, Hattori Nobutaka, Farrer Matthew J, Lohmann Katja, Weissensteiner Hansi, May Patrick, Klein Christine, Grünewald Anne

Abstract excerpt

Biallelic mutations in PINK1/PRKN cause recessive Parkinson's disease. Given the established role of PINK1/Parkin in regulating mitochondrial dynamics, we explored mitochondrial DNA integrity and inflammation as disease modifiers in carriers of mutations in these genes. Mitochondrial DNA integrity was investigated in a large collection of biallelic (n = 84) and monoallelic (n = 170) carriers of PINK1/PRKN...

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Identifiers

PMID: 36478228
DOI: 10.1093/brain/awac464
PMCID: PMC10316771

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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